Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements

<p>Abstract</p> <p>Background</p> <p>The t(9;22)(q34;q11), generating the Philadelphia (Ph) chromosome, is found in more than 90% of patients with chronic myeloid leukemia (CML). As a result of the translocation, the 3' portion of the <it>ABL1 </it>oncogene is transposed from 9q34 to the 5' portion of the <it>BCR </it>gene on chromosome 22 to form the <it>BCR</it>/<it>ABL1 </it>fusion gene. At diagnosis, in 5-10% of CML patients the Ph chromosome is derived from variant translocations other than the standard t(9;22).</p> <p>Results</p> <p>We report a molecular cytogenetic study of 452 consecutive CML patients at diagnosis, that revealed 50 cases identifying three main subgroups: i) cases with variant chromosomal rearrangements other than the classic t(9;22)(q34;q11) (9.5%); ii) cases with cryptic insertions of <it>ABL1 </it>into <it>BCR</it>, or vice versa (1.3%); iii) cases bearing additional chromosomal rearrangements concomitant to the t(9;22) (1.1%). For each cytogenetic group, the mechanism at the basis of the rearrangement is discussed.</p> <p>All breakpoints on other chromosomes involved in variant t(9;22) and in additional rearrangements have been characterized for the first time by Fluorescence In Situ Hybridization (FISH) experiments and bioinformatic analyses. This study revealed a high content of <it>Alu </it>repeats, genes density, GC frequency, and miRNAs in the great majority of the analyzed breakpoints.</p> <p>Conclusions</p> <p>Taken together with literature data about CML with variant t(9;22), our findings identified several new cytogenetic breakpoints as hotspots for recombination, demonstrating that the involvement of chromosomes other than 9 and 22 is not a random event but could depend on specific genomic features. The presence of several genes and/or miRNAs at the identified breakpoints suggests their potential involvement in the CML pathogenesis.</p

MYEOV gene overexpression in primary plasma cell leukemia with t(11;14)(q13;q32)

Primary plasma cell leukemia (pPCL) is an uncommon form of plasma cell dyscrasia, and the most aggressive of the human monoclonal gammopathies. The t(11;14)(q13;q32) rearrangement is the most common alteration in pPCL, promoting cyclin D1 (CCND1) gene overexpression caused by its juxtaposition with the immunoglobulin heavy locus chromosome region. The myeloma overexpressed (MYEOV) gene maps very close to the CCND1 gene on chromosome 11, but its overexpression is rarely observed in multiple myeloma. The present study describes a case of pPCL with t(11;14) characterized by a breakpoint on der(11), unlike the one usually observed. Droplet digital polymerase chain reaction analysis revealed overexpression of CCND1 and MYEOV. To the best of our knowledge, MYEOV gene overexpression has never been previously described in pPCL

The Use of Portable Single-Sided Relaxometry and Laboratory Imaging NMR Devices in Stone Conservation

none5Two nuclear magnetic resonance (NMR) devices, a standard imaging apparatus and a portable single-sided relaxometer (with geometry that allows non-destructive in-situ relaxation measurements on samples of any dimensions), were used to assess the hydrophobic performance of an acrylic polymer (Paraloid B-72) applied as a trichloromethane (chloroform) solution on a biocalcarenite (Lecce stone). The NMR images and relaxation time distribution functions of samples characterized by different treatments were acquired for different water absorption and measurement sequences. Samples were analyzed both fully saturated and during the capillary water absorption. The relaxation results have been compared with NMR images of internal sections of the same samples in the same absorption conditions. In spite of the instrumental and physical differences of the two devices (the singlesided device was tuned to detect the signal from a sensitive volume that is only a small portion of the entire sample, located in the first 2 mm below the surface), the experimental results of relaxometry and imaging are in very good agreement. The comparison allows the assertion to be made that the single-sided NMR technique is a powerful tool for in-situ evaluation of water-repellent treatments used for consolidation and/or protection of stone artifacts.mixedM. Camaiti; C. Casieri; F. De Luca; P. Fantazzini; C. TerenziM. Camaiti; C. Casieri; F. De Luca; P. Fantazzini; C. Terenz

The use of portable single-sided relaxometry and laboratory imaging NMR devices in stone conservation

Two nuclear magnetic resonance (NMR) devices, a standard imaging apparatus and a portable single-sided relaxometer (with geometry that allows non-destructive in-situ relaxation measurements on samples of any dimensions), were used to assess the hydrophobic performance of an acrylic polymer (Faraloid B- 72) applied as a trichloromethane (chloroform) solution on a biocalcarenite (Lecce stone). The NMR images and relaxation time distribution functions of samples characterized by different treatments were acquired for different water absorption and measurement sequences. Samples were analyzed both fully saturated and during the capillary water absorption. The relaxation results have been compared with NMR images of internal sections of the same samples in the same absorption conditions. In spite of the instrumental and physical differences of the two devices (the single-sided device was tuned to detect the signal from a sensitive volume that is only a small portion of the entire sample, located in the first 2 mm below the surface), the experimental results of relaxometry and imaging are in very good agreement. The comparison allows the assertion to be made that the single-sided NMR technique is a powerful tool for in-situ evaluation of water-repellent treatments used for consolidation and/or protection of stone artifacts